Canonical Allele Identifier: CA385676841

Gene: LEMD3

Linked Data

• COSMIC: COSM5035916
• MyVariant Identifiers: chr12:g.65640060T>G (hg19) ; chr12:g.65246280T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65246280T>G , CM000674.2:g.65246280T>G	GRCh38
NC_000012.11:g.65640060T>G , CM000674.1:g.65640060T>G	GRCh37
NC_000012.10:g.63926327T>G	NCBI36
NG_016210.1:g.81710T>G
NG_016210.2:g.81710T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2691T>G MANE Select	ENSP00000308369.2:p.His897Gln
ENST00000308330.2:c.2691T>G	ENSP00000308369.2:p.His897Gln
ENST00000539442.1:n.673T>G
ENST00000544506.1:n.411T>G
ENST00000545026.1:n.509T>G
NM_001167614.1:c.2688T>G	NP_001161086.1:p.His896Gln
NM_014319.4:c.2691T>G	NP_055134.2:p.His897Gln
NM_014319.5:c.2691T>G MANE Select	NP_055134.2:p.His897Gln
NM_001167614.2:c.2688T>G	NP_001161086.1:p.His896Gln